Canonical Allele Identifier: CA2695200487

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673403
• ClinVar RCV Id: RCV003450126

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478423_47478424delinsGCA , CM000664.2:g.47478423_47478424delinsGCA	GRCh38
NC_000002.11:g.47705562_47705563delinsGCA , CM000664.1:g.47705562_47705563delinsGCA	GRCh37
NC_000002.10:g.47559066_47559067delinsGCA	NCBI36
NG_007110.2:g.80300_80301delinsGCA , LRG_218:g.80300_80301delinsGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2362_2363delinsGCA	ENSP00000495641.2:p.Thr788AlafsTer11
ENST00000233146.7:c.2362_2363delinsGCA MANE Select	ENSP00000233146.2:p.Thr788AlafsTer11
ENST00000543555.6:c.2164_2165delinsGCA	ENSP00000442697.1:p.Thr722AlafsTer11
ENST00000644092.1:c.*662_*663delinsGCA	ENSP00000496351.1:n.*662_*663delinsGCA
ENST00000644900.1:c.215_216delinsGCA
ENST00000645339.1:c.2362_2363delinsGCA	ENSP00000496441.1:p.Thr788AlafsTer11
ENST00000645506.1:c.2362_2363delinsGCA	ENSP00000495455.1:p.Thr788AlafsTer11
ENST00000646415.1:c.2362_2363delinsGCA	ENSP00000495543.1:p.Thr788AlafsTer11
ENST00000233146.6:c.2362_2363delinsGCA	ENSP00000233146.2:p.Thr788AlafsTer11
ENST00000406134.5:c.2362_2363delinsGCA	ENSP00000384199.1:p.Thr788AlafsTer11
ENST00000543555.5:c.2164_2165delinsGCA	ENSP00000442697.1:p.Thr722AlafsTer11
ENST00000610696.4:c.*758_*759delinsGCA	ENSP00000483159.1:n.*758_*759delinsGCA
ENST00000613514.4:c.*902_*903delinsGCA	ENSP00000484137.1:n.*902_*903delinsGCA
ENST00000617333.3:c.*1128_*1129delinsGCA	ENSP00000482468.1:n.*1128_*1129delinsGCA
ENST00000617938.4:c.*1334_*1335delinsGCA	ENSP00000481158.1:n.*1334_*1335delinsGCA
ENST00000621359.2:c.2361_2362delinsGCA	ENSP00000481416.1:p.Leu788HisfsTer?
NM_000251.2:c.2362_2363delinsGCA , LRG_218t1:c.2362_2363delinsGCA	NP_000242.1:p.Thr788AlafsTer11
NM_001258281.1:c.2164_2165delinsGCA	NP_001245210.1:p.Thr722AlafsTer11
XM_005264332.2:c.2362_2363delinsGCA	XP_005264389.2:p.Thr788AlafsTer11
XM_011532867.1:c.2362_2363delinsGCA	XP_011531169.1:p.Thr788AlafsTer11
XR_939685.1:n.2434_2435delinsGCA
XM_005264332.4:c.2362_2363delinsGCA	XP_005264389.2:p.Thr788AlafsTer11
XM_011532867.2:c.2362_2363delinsGCA	XP_011531169.1:p.Thr788AlafsTer11
XR_001738747.2:n.2424_2425delinsGCA
XR_939685.2:n.2424_2425delinsGCA
NM_000251.3:c.2362_2363delinsGCA MANE Select	NP_000242.1:p.Thr788AlafsTer11